TABLE 1.

Overview of the symptoms in the proband and the most commonly reported phenotypes of both conditions.

Clinical features	Menkes disease	ACY1 deficiency
Hypotonia	✓	✓
Hypertonia		✓
Loss of developmental milestones	✓
Failure to thrive	✓
Intellectual disability		✓
Language delay		✓
Seizures	✓	✓
Behaviour abnormalities		✓
Sensorineural hearing deficit		✓
Abnormal hair	✓
Vascular tortuosity	✓
Bladder diverticula	✓
Gastric polyps	✓
Bone abnormalities	✓
Premature death	✓